MAEL Gene (MAELSTRON) - Function, Disease Associations, and Expression
Comprehensive biomedical overview of the MAEL gene, including genomic context, protein function, expression patterns, and clinical relevance.
Gene Information Card
| Symbol | MAEL |
|---|---|
| Full Name | MAELSTRON (piRNA pathway associated) |
| Gene Type | Protein coding |
| Chromosomal Location | 1q24.1 |
| NCBI Gene ID | 84944 ncbi.nlm.nih.gov/gene/84944 |
| Ensembl ID | ENSG00000143110 |
| UniProt ID | Q96JY0 |
| OMIM ID | 611268 |
| HGNC ID | 25722 |
| Aliases | CT46, MAELST, Maelstrom homolog |
Description
MAEL (MAELSTRON) encodes a protein involved in the piRNA (Piwi-interacting RNA) pathway, essential for transposon silencing during spermatogenesis. It localizes to nuage and chromatoid bodies, and its loss leads to meiotic arrest and male infertility. The gene is also implicated in certain cancers due to aberrant expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (non-obstructive azoospermia) | Loss of MAEL disrupts piRNA-mediated transposon repression, causing meiotic arrest and spermatogenic failure. | OMIM 611268; PMID: 19088124 |
| Testicular germ cell tumors | MAEL re-expression in tumors may reflect reactivation of germline programs; potential biomarker. | COSMIC; PMID: 23358650 |
| Lung adenocarcinoma | MAEL overexpression correlates with poor prognosis; may promote metastasis via EMT. | PMID: 31591470 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.4 | High |
| Ovary | 0.2 | Not detected |
| Brain | 0.1 | Not detected |
| Heart | 0.1 | Not detected |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (embryonal carcinoma) | 15.2 | High expression; germ cell tumor model |
| HeLa (cervical carcinoma) | 0.3 | Low expression |
| A549 (lung carcinoma) | 0.5 | Low expression |
| HepG2 (hepatocellular carcinoma) | 0.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Premature stop; loss of function |
| c.567_568insA (p.Glu190Argfs*5) | Frameshift insertion | <0.01% | Frameshift; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss variants are predicted to cause loss of MAEL function, impairing piRNA pathway activity and transposon silencing.
Gain of Function (GOF)
No gain-of-function mutations reported in MAEL.
Dominant Negative (DN)
No dominant-negative mutations reported in MAEL.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) | • gene silencing by RNA (GO:0031047) |
| • perinuclear region of cytoplasm (GO:0048471) | • spermatogenesis (GO:0007283) |
| • piRNA metabolic process (GO:0033392) |
Pathways
• piRNA pathway (Reactome: R-HSA-5601884)
• Meiotic recombination (Reactome: R-HSA-1500620)
Protein Summary
MAEL encodes a 464-amino acid protein (UniProt Q96JY0) containing a MAEL domain and a coiled-coil region. It is a component of the piRNA pathway, localizing to nuage and chromatoid bodies in male germ cells. MAEL binds RNA and is required for transposon silencing, meiotic progression, and male fertility. Its expression is largely testis-specific, but it is aberrantly activated in some cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAEL Knockout HEK293 Cell Line | EDJ-KQ10273 | Human | 84944 | Details Get a Quote |
| MAEL Knockout HeLa Cell Line | EDJ-KQ57684 | Human | 84944 | Details Get a Quote |
| MAEL Knockout A-549 Cell Line | EDJ-KQ66185 | Human | 84944 | Details Get a Quote |
| MAEL Knockout HCT 116 Cell Line | EDJ-KQ74611 | Human | 84944 | Details Get a Quote |
